Varaico: Literature-Extracted Genetic Variants

Gene:SYT1
Variant:p.D366N

SYT1

715 papers

RefSeq Summary

This gene encodes a member of the synaptotagmin protein family. The synaptotagmins are integral membrane proteins of synaptic vesicles that serve as calcium sensors in the process of vesicular traffic...

Pfam Domains

C2aa 157–263UCSCC2 domain
C2aa 288–394UCSCC2 domain

Gene Aliases

HGNC Name

synaptotagmin 1

HGNC Previous Symbol

SVP65

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005639.3
p.D366N
c.1096G>A
Surrounding Variants
6 papers
NM_005639.3
p.Y365C
c.1094A>G
14 papers
NM_005639.3
p.D366E
c.1098C>A
3 papers
NM_005639.3
p.K367_I368ins0
c.1100_1102dupAGA
14 papers
NM_005639.3
p.D366E
c.1098C>G
1 paper
NM_005639.3
p.Y365_D366ins0
c.1095_1097dupTGA
2 papers
NM_005639.3
p.K367_I368ins0
c.1101_1103dupGAT
20 papers
NM_005639.3
p.I368T
c.1103T>C
7 papers
NM_005639.3
p.G369D
c.1106G>A
1 paper
NM_005639.3
p.K370R
c.1109A>G
9 papers
NM_005639.3
p.N371K
c.1113C>A
9 papers
NM_005639.3
p.N371K
c.1113C>G
1 paper
NM_005639.3
p.I374I
c.1122C>T
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